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Year : 2003  |  Volume : 13  |  Issue : 4  |  Page : 456-457
Oculo-auriculo-vertebral dysplasia (OAVD): A case report


E- 81 Kalkaji, New Delhi, India

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How to cite this article:
Mahato S K, Grover S B. Oculo-auriculo-vertebral dysplasia (OAVD): A case report. Indian J Radiol Imaging 2003;13:456-7

How to cite this URL:
Mahato S K, Grover S B. Oculo-auriculo-vertebral dysplasia (OAVD): A case report. Indian J Radiol Imaging [serial online] 2003 [cited 2019 Nov 18];13:456-7. Available from: http://www.ijri.org/text.asp?2003/13/4/456/28733
Sir,

A seven year old girl presented with complaints of restricted vision in her left eye.

On examination an epibulbar dermoid and bilateral preauricular tags were observed [Figure - 1]. Rest of the ocular compartments of the left eye, the right eye and ENT examinations were normal. The general physical examination and routine laboratory parameters were normal. Radiographs of Cervico-dorsal spine revealec I butterfly vertebra at D2 [Figure - 2].The skull radiographs, radiographs of paranasal sinuses and remaining skeletal survey was normal. Visual acquity was normal. There was no sensorineural deficit. CT of brain and HRCT both temporal bones were normal. The clinico-radiological triad of epibulbar dermoid, preauricular tags and vertebral anomalies were consistent with the diagnosis of oculoauriculo-vertebral dysplasia (OAVD), which is a subtype of oculo-auriculo-vertebral spectrum (OAVS) or facioauricular-vertebral sequence (FAV) or Goldenhar sequence or Goldenhar syndrome [1],[2],[3].

Oculo-auriculo-vertebral dysplasia (OAVD) is a defect associated with abnormalities of eye, ear and vertebrae. The principal auricular / ocular features are preauricular appendages and/or pretragal fistulae and epibulbar dermoids [1]. OAVD, OAVS and Goldenhar syndrome have been frequently reported in ophthalmology literature. Our objective of reporting this case is to increase awareness of this entity among radiologists as the third component of the 'triad' which defines OAVD, is diagnosed radiologically. Furthermore the syndrome needs to be differentiated from hemifacial microsomia and \mandibulofacial dysostoses for which again the imaging characterstics of mandibular malformations in the former and faciomandibular malformations in the latter are diagnostic.

Many authors consider OAVD and Goldenhar's syndrome to be synonymous while others believe that that the syndrome encompasses two broad subgroups namely OAVD and hemifacial microsomia [1]. This view is based on developmental similarities which is a dysplasia of first and second branchial arches and intervening first pharyngeal pouch and branchial cleft in both the subgroups. The dysplasia is believed to occur either due to the teratogen exposure or a vascular disruption in intrauterine life or maternal diabetes [1],[2]. A new theory put forward for this developmental anomaly states that OAVS occurs as a result of ectodermal nondisjunction early in embryonic development during 4th to 8th weeks of intrauterine life with subsequent mesodermal tethering.

This theory explains multisystem involvement in OAVS [4].

OAVD is the most frequently presenting subgroup of Goldenhar syndrome with the incidence 1 per 3500 to 1 per 5000 live births [1]. The vertebral anomalies are known to range from hypoplasia of  Atlas More Details or block vertebra or spina bifida occulta, hemivertebra or butterfly vertebrae to complete sacral agenesis [1].

Hemifacial microsomia which is the other subgroup of Goldenhar syndrome is characterized by microtia, macrostomia and hypoplastic malformations of the mandible [1]. The mandibular malformations are eloquently documented by spiral CT. This subgroup does not manifest with ocular and vertebral defects [1]. The other differential diagnosis of OAVD and OAVS includes Mandibulo-facial dysostoses (Treacher-Collins syndrome) which is characterized by antimongoloid slant of palpebral fissure, coloboma of lower eyelids, external ear deformities, deafness and hypoplasia of maxilla, zygoma and mandible. The anomalies of facial bones in TreacherCollins syndrome are well documented by spiral CT. Although coloboma of lower eyelids / iris / choroids occur in Treacher-Collins syndrome but if epibulbar dermoids and spinal defects are present the diagnosis is undoubtedly OAVD.

OAVS usually occurs sporadically but a rare familial occurrence suggests that autosomal dominant inheritance does also occur [3].Few other authors have reported its association with trisomy of chromosome 22 and chromosome 9 [2],[3]. Abnormalities of heart, kidneys and central nervous system have sometimes been reported in association with Goldenhar syndrome [3]. Antenatal sonographic detection of OAVS has also been reported by Witters et al and other workers [3], and therefore radiologists needs to be aware of this entity while performing antenatal scans for fetal anomalies.

 
   References Top

1.Gibson JNA, Sillence DO, Taylor TKF. Abnormalities of spine in Goldenhar's syndrome. J Pediatr Orthop 1996; 16:344-349.  Back to cited text no. 1    
2.Kobrynski L, Chitayat D, Zahed L et al. Trisomy 22 and Facioauriculovertebral (Goldenhar) Sequence. Am J Med Genet 1993;46 : 68-71.  Back to cited text no. 2    
3.Witters I, Schreurs J, Wing JV, Wouters W, Fryns JP. Prenatal Diagnosis of facial clefting as part of the oculo auriculo-vetebral spectrum. Prenat Diagn 2001; 21: 62-64.  Back to cited text no. 3    
4.Lam CH. A theory on the embryogenesis of oculoauriculo-vertebral (Goldenhar syndrome). J Craniofac Surg 2000; 11: 547-552.  Back to cited text no. 4  [PUBMED]  

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Correspondence Address:
S K Mahato
E- 81 Kalkaji, New Delhi-110019
India
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